Incidental Mutation 'R1300:Arl2'
ID 158338
Institutional Source Beutler Lab
Gene Symbol Arl2
Ensembl Gene ENSMUSG00000024944
Gene Name ADP-ribosylation factor-like 2
Synonyms arf-like protein 2, 2610009M23Rik
MMRRC Submission 039366-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R1300 (G1)
Quality Score 139
Status Not validated
Chromosome 19
Chromosomal Location 6184419-6191167 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6191103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 10 (M10T)
Ref Sequence ENSEMBL: ENSMUSP00000025893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025893]
AlphaFold Q9D0J4
PDB Structure Complex of Arl2 and PDE delta, Crystal Form 1 [X-RAY DIFFRACTION]
Complex of Arl2 and PDE delta, Crystal Form 2 (native) [X-RAY DIFFRACTION]
Complex of Arl2 and PDE delta, Crystal Form 2 (SeMet) [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000025893
AA Change: M10T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025893
Gene: ENSMUSG00000024944
AA Change: M10T

DomainStartEndE-ValueType
ARF 1 180 8.03e-60 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134150
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134821
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,283,967 (GRCm39) I2535T probably damaging Het
Adam34l A T 8: 44,079,881 (GRCm39) Y114* probably null Het
Ank3 A G 10: 69,840,495 (GRCm39) I952V probably benign Het
Ankar A C 1: 72,682,323 (GRCm39) V1414G probably benign Het
Arpp21 A G 9: 111,972,442 (GRCm39) I352T probably damaging Het
Cacna1e T A 1: 154,274,419 (GRCm39) H2162L probably benign Het
Cep170b A C 12: 112,703,691 (GRCm39) M622L probably benign Het
Cped1 T C 6: 22,119,552 (GRCm39) V337A probably benign Het
Cpn2 T A 16: 30,078,481 (GRCm39) T407S probably benign Het
Cpne4 T C 9: 104,870,333 (GRCm39) W263R probably damaging Het
Crtc1 A G 8: 70,840,189 (GRCm39) probably null Het
Cspg4b T C 13: 113,502,694 (GRCm39) F133S probably damaging Het
Dennd5a A T 7: 109,518,614 (GRCm39) I485N probably benign Het
Dnah6 T C 6: 73,101,692 (GRCm39) Q1892R probably benign Het
Dse G A 10: 34,028,411 (GRCm39) A893V probably benign Het
Dsg1a T G 18: 20,465,206 (GRCm39) S466A probably benign Het
Dstyk T C 1: 132,377,651 (GRCm39) V419A probably benign Het
Eif2ak4 T C 2: 118,294,464 (GRCm39) V1125A possibly damaging Het
Ep400 C A 5: 110,821,426 (GRCm39) G2576C probably damaging Het
Eps15l1 A T 8: 73,145,746 (GRCm39) D162E probably damaging Het
Fstl4 C A 11: 52,959,454 (GRCm39) T165N probably benign Het
Gm8674 T C 13: 50,055,758 (GRCm39) noncoding transcript Het
Gtsf2 T A 15: 103,352,780 (GRCm39) L39F possibly damaging Het
Hck A C 2: 152,976,067 (GRCm39) D202A possibly damaging Het
Il12b T A 11: 44,298,903 (GRCm39) probably null Het
Irf4 T C 13: 30,941,568 (GRCm39) L307P probably damaging Het
Keg1 G A 19: 12,696,368 (GRCm39) R184Q probably damaging Het
Kmt2c T C 5: 25,610,452 (GRCm39) D218G probably damaging Het
Map1b T C 13: 99,569,029 (GRCm39) K1231E unknown Het
Mapkbp1 T C 2: 119,844,136 (GRCm39) Y293H probably benign Het
Mfsd8 A T 3: 40,778,333 (GRCm39) D310E probably benign Het
Mmp9 A T 2: 164,790,876 (GRCm39) D88V probably damaging Het
Muc5ac G T 7: 141,370,666 (GRCm39) C2522F possibly damaging Het
Myo1e A T 9: 70,209,065 (GRCm39) I110F probably damaging Het
Neu1 A T 17: 35,153,314 (GRCm39) Y279F possibly damaging Het
Nhsl1 A G 10: 18,284,209 (GRCm39) H50R probably benign Het
Nlrp3 C T 11: 59,446,594 (GRCm39) S780F possibly damaging Het
Npc1l1 T G 11: 6,177,859 (GRCm39) D517A probably damaging Het
Or14c43 T C 7: 86,114,951 (GRCm39) F111L probably benign Het
Or1e32 T C 11: 73,705,072 (GRCm39) T279A probably benign Het
Or2z2 T C 11: 58,346,667 (GRCm39) Y36C probably damaging Het
Or52e3 G A 7: 102,869,324 (GRCm39) R133Q probably benign Het
P3h2 C A 16: 25,815,986 (GRCm39) E176* probably null Het
Parp10 C A 15: 76,126,190 (GRCm39) D333Y possibly damaging Het
Pcdhb12 C T 18: 37,570,450 (GRCm39) A532V possibly damaging Het
Pde2a A T 7: 101,159,611 (GRCm39) T818S possibly damaging Het
Phf11 A T 14: 59,488,563 (GRCm39) V78D probably damaging Het
Phip A T 9: 82,758,800 (GRCm39) L1450Q probably benign Het
Pinx1 A G 14: 64,156,859 (GRCm39) E262G probably benign Het
Ppargc1a T C 5: 51,706,014 (GRCm39) E19G probably damaging Het
Pum1 T C 4: 130,493,272 (GRCm39) I921T probably damaging Het
Rgs22 T A 15: 36,101,908 (GRCm39) H106L probably benign Het
Slc10a6 T C 5: 103,754,550 (GRCm39) D327G probably benign Het
Syt1 A T 10: 108,467,682 (GRCm39) V205D possibly damaging Het
Tep1 C T 14: 51,064,512 (GRCm39) probably null Het
Thnsl2 T A 6: 71,111,175 (GRCm39) Q231L probably damaging Het
Ttc4 T A 4: 106,524,763 (GRCm39) H304L probably damaging Het
Unc5c G A 3: 141,534,304 (GRCm39) V923M possibly damaging Het
Zfp777 T C 6: 48,002,704 (GRCm39) E506G probably benign Het
Other mutations in Arl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Arl2 APN 19 6,191,082 (GRCm39) missense probably damaging 1.00
IGL00841:Arl2 APN 19 6,185,999 (GRCm39) splice site probably benign
IGL01883:Arl2 APN 19 6,187,521 (GRCm39) missense probably damaging 1.00
R0833:Arl2 UTSW 19 6,186,052 (GRCm39) missense probably damaging 1.00
R3952:Arl2 UTSW 19 6,184,707 (GRCm39) missense probably benign 0.03
R4669:Arl2 UTSW 19 6,184,716 (GRCm39) missense probably damaging 1.00
R4692:Arl2 UTSW 19 6,187,776 (GRCm39) missense probably damaging 0.99
R5683:Arl2 UTSW 19 6,184,794 (GRCm39) missense probably benign
R6715:Arl2 UTSW 19 6,187,555 (GRCm39) missense probably damaging 1.00
R7027:Arl2 UTSW 19 6,191,119 (GRCm39) missense probably benign 0.00
R7100:Arl2 UTSW 19 6,184,774 (GRCm39) missense probably benign 0.01
R8212:Arl2 UTSW 19 6,187,596 (GRCm39) missense probably damaging 1.00
R8226:Arl2 UTSW 19 6,187,506 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TCGCAGTGATACTGGAGTCCCAAG -3'
(R):5'- AGCTCAGAATCTCTTCGCGGCTAC -3'

Sequencing Primer
(F):5'- GCCTTCTGCACGCCAAC -3'
(R):5'- AGAAAGTCAGCCTCTGTCTG -3'
Posted On 2014-02-18